rs397507547, PTPN11

N. diseases: 14
Source: CURATED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Noonan syndrome and clinically related disorders. 21396583 2011
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169 2009
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. 19467855 2009
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 CausalMutation CLINVAR PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799 2008
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 CausalMutation CLINVAR Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients. 18331608 2008
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Noonan syndrome. 17222357 2007
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 CausalMutation CLINVAR Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome. 17339163 2007
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 CausalMutation CLINVAR Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome. 17661820 2007
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636 2007
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 CausalMutation CLINVAR PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. 17020470 2006
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR LEOPARD syndrome: clinical diagnosis in the first year of life. 16523510 2006
Curly hair (finding)
CUI: C0558165
Disease: Curly hair (finding)
0.700 CausalMutation CLINVAR Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia. 15834506 2005
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 CausalMutation CLINVAR Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia. 15834506 2005
Multiple nevi
CUI: C0700199
Disease: Multiple nevi
0.700 CausalMutation CLINVAR Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia. 15834506 2005
Congenital ocular coloboma (disorder)
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
0.700 CausalMutation CLINVAR Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia. 15834506 2005
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218 2003
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
Multiple nevi
CUI: C0700199
Disease: Multiple nevi
0.700 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
Curly hair (finding)
CUI: C0558165
Disease: Curly hair (finding)
0.700 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
Congenital ocular coloboma (disorder)
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
0.700 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). 9222968 1997
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Protein-tyrosine phosphatase SH-PTP2 (PTPN11) is localized to 12q24.1-24.3. 8530013 1995
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR A clinical study of Noonan syndrome. 1543375 1992
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Noonan syndrome: the changing phenotype. 4025385 1985